Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 receptor gamma chain (IL2RG) and adenosine deaminase (ADA...

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Main Authors: Pooja Purswani, Cristina Adelia Meehan, Hye Sun Kuehn, Yenhui Chang, Joseph F. Dasso, Anna K. Meyer, Boglarka Ujhazi, Krisztian Csomos, David Lindsay, Taylor Alberdi, Sonia Joychan, Jessica Trotter, Carla Duff, Maryssa Ellison, Jack Bleesing, Attila Kumanovics, Anne M. Comeau, Jaime E. Hale, Luigi D. Notarangelo, Troy R. Torgersen, Hans D. Ochs, Panida Sriaroon, Benjamin Oshrine, Aleksandra Petrovic, Sergio D. Rosenzweig, Jennifer W. Leiding, Jolan E. Walter
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Pediatrics
Subjects:
interleukin 2 receptor gamma (IL2RG)
X-linked severe combined immunodeficiency (SCID)
newborn screening
maternal X-inactivation studies
functional assays
gamma chain signaling
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00055/full

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https://www.frontiersin.org/article/10.3389/fped.2019.00055/full

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